Final answer:
Metabolic diseases occur when there is an enzyme deficiency within a patient, affecting specific metabolic pathways leading to substrate accumulation. Examples include phenylketonuria caused by a phenylalanine hydroxylase deficiency.
Step-by-step explanation:
Metabolic diseases occur when there is an enzyme deficiency within a patient. Enzymes are proteins that catalyze specific chemical reactions in the body. When a patient lacks a specific enzyme, it can lead to the accumulation of certain substrates or the inability to metabolize certain substances, resulting in metabolic diseases.
For example, phenylketonuria (PKU) is a metabolic disease caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is responsible for converting the amino acid phenylalanine into another amino acid called tyrosine. Without this enzyme, phenylalanine builds up in the body and can cause intellectual disability and other health problems.
In summary, metabolic diseases occur due to enzyme deficiencies that affect specific metabolic pathways in the body, leading to the accumulation of certain substrates.
Learn more about Metabolic diseases and enzyme deficiencies